A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246176



Internal ID21693685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101155500..101155500hg38UCSC Ensembl
chr12:101549278..101549278hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718435
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17246176
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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